Tetrasomy 12

MedGen UID:: 272853
•Concept ID:: C1515336
•: Cell or Molecular Dysfunction

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTetrasomy 12

Molecular Abnormality
- Cytogenetic Abnormality
  - Chromosome 12 Abnormality
    - Tetrasomy 12

Professional guidelines

PubMed

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing.

Zhang F, Yin T, Tang X, Ma S, Meng Q, Song J, Wang Y, Men S, Wang L
J Assist Reprod Genet 2023 Sep;40(9):2233-2240. Epub 2023 Jul 28 doi: 10.1007/s10815-023-02896-8. PMID: 37501006 Free PMC Article

Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.

Hu H, Huang Y, Hou R, Xu H, Liu Y, Liao X, Xu J, Jiang L, Wang D
BMC Med Genomics 2023 Apr 3;16(1):69. doi: 10.1186/s12920-023-01493-z. PMID: 37013593 Free PMC Article

The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.

Chau MHK, Lam DYM, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung SWH, Lau TK, Ville Y, Leung TY, Choy KW
Prenat Diagn 2020 Jul;40(8):1005-1012. Epub 2020 May 17 doi: 10.1002/pd.5721. PMID: 32350887

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Recent clinical studies

Etiology

The High Mobility Group A2 gene is amplified and overexpressed in human prolactinomas.

Finelli P, Pierantoni GM, Giardino D, Losa M, Rodeschini O, Fedele M, Valtorta E, Mortini P, Croce CM, Larizza L, Fusco A
Cancer Res 2002 Apr 15;62(8):2398-405. PMID: 11956103

Tetrasomy 12 in ovarian tumors of thecoma-fibroma group: A fluorescence in situ hybridization analysis using paraffin sections.

Liang SB, Sonobe H, Taguchi T, Takeuchi T, Furihata M, Yuri K, Ohtsuki Y
Pathol Int 2001 Jan;51(1):37-42. doi: 10.1046/j.1440-1827.2001.01168.x. PMID: 11148462

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